Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Details

Serval ID
serval:BIB_5322455C9A14
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Journal
European Journal of Medical Genetics
Author(s)
Van der Aa N., Rooms L., Vandeweyer G., van den Ende J., Reyniers E., Fichera M., Romano C., Delle Chiaie B., Mortier G., Menten B., Destrée A., Maystadt I., Männik K., Kurg A., Reimand T., McMullan D., Oley C., Brueton L., Bongers E.M., van Bon B.W., Pfund R., Jacquemont S., Ferrarini A., Martinet D., Schrander-Stumpel C., Stegmann A.P., Frints S.G., de Vries B.B., Ceulemans B., Kooy R.F.
ISSN
1878-0849[electronic]
Publication state
Published
Issued date
2009
Volume
52
Number
2-3
Pages
94-100
Language
english
Abstract
Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
Pubmed
Web of science
Create date
24/03/2009 13:13
Last modification date
20/08/2019 15:08
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